Global Patent Index - EP 2345722 A1

EP 2345722 A1 20110720 - Mutations in the parkin gene, compositions, methods and uses

Title (en)

Mutations in the parkin gene, compositions, methods and uses

Title (de)

Mutations des Parkin-Gens, Zusammensetzungen, Vervahren und Anwendungen

Title (fr)

Mutations du gêne de la parkine, compositions, méthodes et utilisations

Publication

EP 2345722 A1 20110720 (FR)

Application

EP 10184008 A 19991118

Previously filed application

09167384 19991118 EP

Priority

  • EP 09167384 A 19991118
  • EP 99956079 A 19991118
  • FR 9814524 A 19981119
  • US 12423999 P 19990312
  • FR 9910140 A 19990804

Abstract (en)

New nucleic acid (I) encodes human parkin protein and includes at least one of the following genetic alterations: (a) deletion of one or more exons, optionally in combination; (b) multiplication of exons; (c) point mutations; or (d) deletion or insertion of one or more contiguous base pairs. Independent claims are also included for the following: (1) a polypeptide (II) encoded by (I); (2) an antibody (Ab) specific for (II); (3) a nucleic acid probe (Ia) that hybridizes specifically with (I); (4) primer pairs for amplifying all or part of (I); (5) a method for identifying genetic alterations in the parkin gene by amplifying at least part of the gene and detecting the specified alterations; (6) a method for diagnosing susceptibility to parkinsonism by detecting a specified alteration in the parkin gene; (7) a vector containing (I); (8) a cell containing the vector of (8); and (9) a non-human animal containing (I) in its cells. ACTIVITY : None given. MECHANISM OF ACTION : None given. No biological data given.

Abstract (fr)

La présente invention concerne des acides nucléiques codant pour des formes de la parkine humaine mutées, tronquées ou comportant des multiplications d'exons, et les protéines et anticorps correspondants. Elle concerne aussi des méthodes et kits pour l'identification de mutations du gène de la parkine, ainsi que pour l'étude de composés à visée thérapeutique.

IPC 8 full level

A01K 67/027 (2006.01); C12N 15/12 (2006.01); A61K 38/17 (2006.01); A61K 39/395 (2006.01); A61P 25/06 (2006.01); A61P 25/16 (2006.01); C07K 14/47 (2006.01); C07K 16/18 (2006.01); C12N 1/15 (2006.01); C12N 1/19 (2006.01); C12N 1/21 (2006.01); C12N 5/10 (2006.01); C12N 9/00 (2006.01); C12N 15/09 (2006.01); C12Q 1/68 (2006.01); G01N 33/15 (2006.01); G01N 33/50 (2006.01)

CPC (source: EP US)

A61P 25/06 (2017.12 - EP); A61P 25/16 (2017.12 - EP); C07K 16/40 (2013.01 - US); C12N 9/104 (2013.01 - EP US); C12N 9/93 (2013.01 - EP US); C12Q 1/6883 (2013.01 - EP US); C12Q 2600/156 (2013.01 - EP US); C12Q 2600/158 (2013.01 - US); C12Q 2600/16 (2013.01 - EP US); C12Y 603/02019 (2013.01 - EP US)

Citation (search report)

  • [AP] WO 9940191 A1 19990812 - SHIMIZU NOBUYOSHI [JP], et al
  • [A] HATTORI ET AL: "Point Mutations (Thr240Arg and Ala311Stop) in the Parkin Gene", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ACADEMIC PRESS INC. ORLANDO, FL, US, vol. 249, no. 3, 28 August 1998 (1998-08-28), pages 754 - 758, XP002108468, ISSN: 0006-291X & HATTORI N ET AL: "POINT MUTATIONS (THR240ARG AND GIN311STOP) IN THE PARKIN GENE", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ACADEMIC PRESS INC. ORLANDO, FL, US, vol. 251, no. 2, 20 October 1998 (1998-10-20), pages 666, XP000877323, ISSN: 0006-291X
  • [XP] ABBAS ET AL: "A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe", HUMAN MOLECULAR GENETICS, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 8, no. 4, April 1999 (1999-04-01), pages 567 - 574, XP002108471, ISSN: 0964-6906

Designated contracting state (EPC)

AT BE CH CY DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE

DOCDB simple family (publication)

WO 0031253 A2 20000602; WO 0031253 A3 20000928; AT E440138 T1 20090915; AU 1276900 A 20000613; AU 778281 B2 20041125; CA 2351567 A1 20000602; CA 2351567 C 20160112; CY 1110535 T1 20150429; DE 69941300 D1 20091001; DK 1131424 T3 20091123; EP 1131424 A2 20010912; EP 1131424 B1 20090819; EP 2128257 A2 20091202; EP 2128257 A3 20100303; EP 2305816 A1 20110406; EP 2311954 A1 20110420; EP 2345722 A1 20110720; ES 2330281 T3 20091207; IL 142755 A0 20020310; IL 142755 A 20090803; IL 187652 A 20100217; JP 2002536961 A 20021105; JP 5424519 B2 20140226; NO 20012342 D0 20010511; NO 20012342 L 20010718; NO 20110577 L 20010718; NO 20110578 L 20010718; NO 20110580 L 20010718; NO 20110582 L 20010718; NO 330896 B1 20110808; NO 332173 B1 20120716; NO 332174 B1 20120716; NO 333906 B1 20131014; NO 333907 B1 20131014; NZ 512313 A 20031219; PT 1131424 E 20091023; US 2012064598 A1 20120315; US 2015074836 A1 20150312; US 2017183736 A1 20170629; US 8835618 B2 20140916; US 9540693 B2 20170110

DOCDB simple family (application)

FR 9902833 W 19991118; AT 99956079 T 19991118; AU 1276900 A 19991118; CA 2351567 A 19991118; CY 091101178 T 20091111; DE 69941300 T 19991118; DK 99956079 T 19991118; EP 09167384 A 19991118; EP 10184008 A 19991118; EP 10184027 A 19991118; EP 10184042 A 19991118; EP 99956079 A 19991118; ES 99956079 T 19991118; IL 14275501 A 20010423; IL 14275599 A 19991118; IL 18765207 A 20071126; JP 2000584062 A 19991118; NO 20012342 A 20010511; NO 20110577 A 20110414; NO 20110578 A 20110414; NO 20110580 A 20110414; NO 20110582 A 20110414; NZ 51231399 A 19991118; PT 99956079 T 19991118; US 201113209495 A 20110815; US 201414454026 A 20140807; US 201615343323 A 20161104